HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27920185del , CM000675.2:g.27920185del | GRCh38 |
NC_000013.10:g.28494322del , CM000675.1:g.28494322del | GRCh37 |
NC_000013.9:g.27392322del | NCBI36 |
NG_008183.1:g.5155del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.47del (PDX1) MANE Select | ENSP00000370421.4:p.Asp16AlafsTer? | |
ENST00000381033.4:c.47del (PDX1) | ENSP00000370421.4:p.Asp16AlafsTer? | |
NM_000209.3:c.47del (PDX1) | NP_000200.1:p.Asp16AlafsTer? | |
NR_047484.1:n.241+979del (PLUT) | ||
XR_941578.1:n.192del (PDX1) | ||
XR_941579.1:n.192del (PDX1) | ||
XR_941580.1:n.192del (PDX1) | ||
XR_941578.2:n.204del (PDX1) | ||
XR_941580.2:n.204del (PDX1) | ||
NM_000209.4:c.47del (PDX1) MANE Select | NP_000200.1:p.Asp16AlafsTer? |